If freedom does not appeal, the clinching argument for allowing consumers unfiltered access to their own genes is a scientific one. The only way slight genetic influences on health are going to emerge is if thousands of people submit their genomes for testing, and the only way that is going to happen is voluntarily. Academic research projects cannot promise to create the huge databases that an enthusiastic populace applying to an entrepreneurial testing industry can spawn. Genetic knowledge, whether the high priests like it or not, is going to be a crowd-sourced phenomenon.

I think “crowd-sourcing” has limits, but in many areas it will probably be the way of the future because there is a constraint on the labor hours of scholars. This was implicit in Joseph Pickrell’s argument in Why DTC genetic testing is good for research. My post Resolutions in the Indian genetic layer cake was based on Zack Ajmal’s particular interest in Indian genetics which prompted him to ask for both the Reich et al. and Chauby et al. data sets. Bringing the two data sets into one ADMIXTURE run easily allowed for the resolution of a major question about the prehistory of South Asia. There’s was nothing preventing scholars from doing this first, but they are busy people and have a finite number of labor hours that they can devote to the sea of questions which are begging to be answered.

With the exception of established monogenic disorders where a genetic test forms part of the diagnosis (i.e, Huntington’s Disease), it is unrealistic to consider the information contained in the presently available direct to consumer genomic tests (i.e 23andme, DecodeMe, Navigenics, Pathway Genomics) as holding significant clinical validity.

Indeed, the expectation of clinical utility was there when the genome was initially sequenced but since then it has become increasingly apparent that, insofar as the contribution of genetics to health is concerned, DNA sequence forms only part of the picture and that we must consider epigenetics (the activation status of a gene), enterogenetics (the species of bacteria colonizing the gut), and even telomere genetics (the aging status of cells) if one is to attempt to draw a clinical picture based on genetic information.

Hopefully the medical community will soon appreciate that information encoded in DNA sequence variation very rarely (as in the case of monogenic disorders) contains critical clinical data that needs to be acted on by a medical professional, and the risk to the consumer undertaking such tests is only from exploitation by companies who misrepresent the results of such tests in order to promote ancillary products or services.

What the medical community must also recognize, is that the personal genomics revolution is an extraordinary techno-socio development that has served to accelerate knowledge of health, biological individuality and proactive health management in the consumers who are participating.

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Gene Expression

This blog is about evolution, genetics, genomics and their interstices. Please beware that comments are aggressively moderated. Uncivil or churlish comments will likely get you banned immediately, so make any contribution count!

About Razib Khan

I have degrees in biology and biochemistry, a passion for genetics, history, and philosophy, and shrimp is my favorite food. In relation to nationality I'm a American Northwesterner, in politics I'm a reactionary, and as for religion I have none (I'm an atheist). If you want to know more, see the links at http://www.razib.com